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Metabolic Causes of Neonatal Seizures a Practical Approach to Treatable Causes

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Metabolic Causes of Neonatal Seizures a Practical Approach to Treatable Causes EPILEPSY ESSENTIALS Metabolic Causes of Neonatal Seizures A practical approach to treatable causes. By Danielle S. Takacs, MD and Eli M. Mizrahi, MD Seizures in the neonatal period turing, some limb movements, and some autonomic signs). are often the first sign of neu- Therefore, whenever possible, the evaluation of an infant rologic dysfunction in this age with suspected seizures should include EEG in order to group and have significant verify whether questionable events are of epileptic origin. implications for long-term cog- In addition, more recent recommendations suggest infants nition, learning, behavior, and at risk for seizures be evaluated with long-term monitor- motor development. Although several factors may affect ing (LTM) with EEG and video for seizure surveillance and prognosis, such as the seizures themselves and their physio- characterization and classification of any recorded events.4 logic consequences, the overriding contributor to long-term The application of these guidelines has led to the under- prognosis is seizure etiology. Therefore, early identification standing that many newborns who are ill and at risk for of the cause of seizures and initiation of etiologic-specific seizures may have electrographic seizure activity with no treatment are vital, both to control seizures and improve clinical changes (subclinical seizures).5 outcomes. The neonatal period is generally defined as the first 28 days of life in a full-term infant. In preterm infants, Initial Etiologic Evaluation the period is defined either as up to 44 weeks conceptional Identification of the underlying cause may lead to the age (chronological age plus gestational age) or 46 weeks effective treatment of neonatal seizures, because in some postmenstrual age (PMA). Within this period, a number of cases without etiologic-specific therapy, the use of anti- metabolic disorders become apparent and may manifest seizure medications (ASMs) may be ineffective. Broad as neonatal seizures. In this article, we review some of these etiologic categories are listed in the Box. For some infants, metabolic disorders, an approach to their diagnosis, and the more than 1 factor may play a role.6 institution of etiologic-specific treatments. Clinical Features of Neonatal Seizures BOX. COMMON ETIOLOGIES OF Neonatal seizures are characterized by a wide range and NEONATAL SEIZURES combination of clinical features. There have been several proposed classifications of clinical neonatal seizures that commonly include these seizure types: focal clonic, focal • Hypoxic-ischemic encephalopathy tonic, myoclonic, spasms, and automatisms (such as eye • Intracranial hemorrhage movements, oral-buccal-lingual movements, and limb movements of progression).1-3 The clinical diagnosis of • Metabolic disturbances neonatal seizures is made more difficult because the events • Central nervous system or systemic infections often differ in character from that seen later in infancy and childhood. In addition, some clinical events that appear • Structural brain lesions concerning for seizure-like behavior may be nonepileptic in • Genetic disorders origin (eg, some myoclonic events, generalized body pos- MARCH/APRIL 2020 PRACTICAL NEUROLOGY 59 EPILEPSY ESSENTIALS After a careful history and physical examination, the ini- seizure etiology is not quickly identified with these initial tial evaluation is directed towards screening for these broad tests, additional evaluations become necessary to identify categories of etiologies (Figure). The infant is first stabilized nonstructural causes of neonatal seizures including lumbar in terms of airway protection and access to circulation and puncture and analysis of cerebrospinal fluid (CSF)(Table). then evaluated with basic laboratory studies: complete The lumbar puncture should be planned to include not blood count and complete metabolic panel (including only routine cell counts, chemistries and cultures but also sodium, glucose, calcium, magnesium, and phosphate). This specific assays for metabolic disorders discussed below. allows for the identification of potential acutely treatable disorders, including hypoglycemia, hyper/hyponatremia, Neonatal Seizure Syndromes hypocalcemia, and hypomagnesemia.7 It is helpful to determine early in the management of Urgent head imaging, especially in cases of focal defi- neonatal seizures whether the clinical events are part of cit and depressed mental status is performed. Although an epileptic syndrome. This can provide insight into etiol- MRI is the preferred imaging modality, head ultrasound ogy, treatment, and prognosis. The International League or CT may be used as alternatives. An urgent EEG, ide- Against Epilepsy has identified a limited number of neona- ally transitioning to LTM should also be initiated. When tal epileptic syndromes.8 Benign familial neonatal epilepsy has an early onset, typi- cally by day 2 to 3 of life, and is associated with a familial history of neonatal seizures. It is caused by autosomal domi- nant mutations with incomplete penetrance seen in the genes encoding potassium channels KCNQ2 and KCNQ3. The clinical presentation may include a wide array of seizure semiologies including focal clonic or focal tonic seizures, and may also include apnea, facial movements, spasms, myoclo- nus, or generalized events. The seizures are typically self-lim- ited and the syndrome is associated with a good outcome. The early-onset epileptic encephalopathies are often cat- egorized by their clinical features as early infantile epileptic encephalopathy (EIEE) (Ohtahara syndrome) and early myoclonic encephalopathy (EME).9 Both may begin in the neonatal period, although EIEE more typically has onset in early infancy. Clinical features of the seizures are helpful for diagnosis because EME is associated with initial fragmentary myoclonic seizures whereas EIEE is more likely to present ini- tially with tonic spasms. Both are associated with a suppres- sion burst pattern on EEG and there is a suggestion that in EME, it is most prominent in sleep and in EIEE, the pattern is present in both wakefulness and sleep. Traditionally, EME is most often associated with metabolic disorders and EIEE has classically been associated with structural brain abnormali- ties. However, there is a more recent recognition that EME and EIEE have overlapping etiologies, particularly the genetic mutations seen in both.10 In addition, both may show pro- gression to West syndrome and Lennox-Gastaut syndrome (LGS), and ultimately result in poor prognosis. Figure 1. Sequential Approach to Etiologic Evaluation of Neonatal Once these syndromes of epileptic encephalopathy Seizures. Similar to new-onset seizures at any age, after history and are identified, further evaluation may guide treatment physical exam, neonatal seizure evaluation includes first ruling out and determination of prognosis. This is also the case with acute metabolic derangements and infectious processes before infants with nonsyndromic neonatal seizures and no struc- obtaining imaging and neurodiagnostic studies. When no clear tural or routine metabolic abnormality identified with etiology is found, second tier testing is pursued. Abbreviations: initial testing. In these cases, follow-up testing may identify LTM, long-term monitoring; TORCH, toxoplasma, syphilis, rubella, inborn errors of metabolism or genetic etiologies that may cytomegalovirus, and herpes simplex antibody panel. lead to targeted therapies. 60 PRACTICAL NEUROLOGY MARCH/APRIL 2020 EPILEPSY ESSENTIALS Some infants with suspected epileptic encephalopathies TABLE: SECOND TIER TESTING FOR ETIOLOGIC with or without a suppression burst EEG pattern may have INVESTIGATION IN NEONATAL SEIZURES a KCNQ2 or KCNQ3 mutation.11 Although this constel- Ammonia Useful in identification of urea cycle defects, lation of mutations is often associated with self-limited organic acidurias benign familial neonatal seizures, it can also be associated with these more severe clinical conditions. It is important Lactate/ Useful in identification of organic acidemias to identify this etiology in these infants because there are pyruvate emerging therapies (eg, channel-opening agents) that may Plasma Identification of aminoacidopathies, some significantly alter outcomes.12,13 amino acids urea cycle disorders, and organic acidurias Inborn Errors of Metabolism Defects of serum biogenesis demonstrate low The most common presentation of inborn errors of levels of serine in plasma and cerebrospinal metabolism in the newborn period is that of encepha- fluid (CSF) lopathy or appearance of decreased responsiveness, poor Nonketotic hyperglycinemia (NKH) is associ- feeding, lethargy, respiratory complications, and seizures. ated with elevated glycine A wide array of conditions may cause these findings, and Phenylketonuria (PKU) is associated with therefore in addition to the baseline screening laboratory elevated phenylalanine testing, second-tier testing is needed (Table). This includes baseline lactate and ammonia serum levels as screening Maple syrup urine disease (MSUD) is associat- tests to aid in identifying organic acidurias, fatty acid oxi- ed with elevated branched chain amino acids dation defects, or urea cycle defects, many of which can Acylcarnitine Identification of organic acidurias, fatty acid be treated with dietary modifications. Urea cycle disorders profile oxidation defects are typically suspected in cases of significant hyperammo- nemia, whereas plasma levels of acylcarnitine, amino acids, Urinalysis Urine organic
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